A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2820130



Internal ID21265468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:146382748..146382748hg38UCSC Ensembl
chrX:145464266..145464266hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13709751
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2820130
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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